EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: QUESTION MARK EARS, ISOLATED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777233
rs587777233
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C2748545
Disease:
QUESTION MARK EARS, ISOLATED 		0.800 GeneticVariation UNIPROT Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
dbSNP: rs587777233
rs587777233
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C2748545
Disease:
QUESTION MARK EARS, ISOLATED 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777234
rs587777234
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C2748545
Disease:
QUESTION MARK EARS, ISOLATED 		G 0.700 CausalMutation CLINVAR